Volume 9, Issue 2, February – 2024 International Journal of Innovative Science and Research Technology

ISSN No:-2456-2165

Childhood Ocular Cystinosis- A Case Report

Zubaida Noor*1, Sujit Kumar Biswas2, Nuruddin Zahed1
1
Resident, Chittagong Eye Infirmary & Training Complex
2
Consultant, Chittagong Eye Infirmary & Training Complex

*Corresponding Author: Zubaida Noor

Abstract:-
Aim: To present a rare case of childhood ocular
cystinosis.
Case Report: We report a case of 10 years old girl with
ocular cystinosis presented with the complain of
photophobia, watering, sometimes redness and foreign
body sensation. On ophthalmic examination visual
acuity was 6/6 in both eyes and slit-lamp examination
reveals fine cystine crystal deposition in both corneal.
Rest of the ocular examination was unremarkable.
Conclusion: Cystinosis is a rare Autosomal recessive
disorder which is basically characterised by deposition of
amino acid cystin within lysosome that damages various Fig 1: Fine crystals deposited all over both of the cornea
organs and tissues mainly kidney and eyes. A
multidisciplinary approach icluding ophthalmologist, Other anterior segment examination and fundus was
nephrologist can manage a case of cystinosis. normal. The other family members did not have similar
findings. The patient was advised to do some systemic
Keywords:- Cystine Crystals, Corneal Deposists, examinations including kidney-function test, liver-function
Photophobia. test, thyroid-function test. Serum bilirubin was 0.5 mg/dL,
serum SGOT 30 µ/L, serum ALP 180 U/L, serum ures 19.5
I. INTRODUCTION mg/dl, serum BUN 9.1 mg/dl, serum creatinine 0.5 mg/dl
with eGFR 100.7/ml/min/1.73m2, free T3 2.85pg/ml, free
Cystinosis is a rare form of genetic disorder that is T4 1.20 ng/dl and TSH was 1.67µIU/ml. USG of whole
Autosomal recessive lysosomal storage disorder with an abdomen was normal (Fig. 2).
incidence of 1 case per 1,00,000-2,00,000 live births[1]. It
was first published in 1903 by Swiss biochemist and
physiologist Emil Abderhalden (1877-1950) [2]. Cystinosis
causes deposit of cystin in various organ including eyes and
kidneys. Ocular cystinosis causes photophobia, watering,
visual problem and mild discomfort and there is risk of
glaucoma. Early detection is needed to prevent these
complications mainly to prevent visual impairment.

II. CASE REPORT

A 10 years old girl came to cornea outpatient

department with her mother with complain of severe
photophobia, sometimes redness and foreign body sensation.
On examination her visual acuity was 6/6 in both eyes. Slit-
lamp examination showed diffuse stromal crystals deposit
over entire cornea of both eyes (Fig. 1).

Fig 2: USG of whole abdomen.

Systemic examination revealed no abnormality. We

did color fundus photograph os both eyes and showed
completely normal and there was no cysteine crystal
deposition in the retina (Fig. 3).

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Volume 9, Issue 2, February – 2024 International Journal of Innovative Science and Research Technology
Fig 3: Fundus photos.
On the basis of ocular and systemic examination she
was diagnosed as a case of ocular (non-nephrotic)
cystinosis. The patient was advised to use photochromic
spectacles to prevent photophobia and artificial tear eye
drop for foreign body sensation. But was unable to get
cysteamine eye drops due to lack of preparation in our
country. She is advised to follow-up regularly for corneal
stability checkup.
III. DISCUSSION
Ocular cystinosis is rare genetic disorder that affects
both male and female equally, commonly diagnosed in
childhood between the age of 1 to 7 years. Mostly seen in
European descent ,but also has been reported in people of all
ethnic background. It occurs mainly from mutations in the
gene CTNS [3] mapped on chromosome 17p13.2 encoding
the protein cystinosin,the lysosomal cystine transporter [4].
This mutation cause dfective cystine transport out of
lysosome that leads to excessive accumulation and
crystalization in various tissues ,specifically in kidneys and
eyes, later on thyroid, liver, testes, pancrease, muscles,
brain, bone marrow and spleen causing different symptoms
[1,3]. There are 3 types of cystinosis, the most severe one is
Infantile nephrotic cystionosis, less severe is Juvenile
nephrotic cystenosis and extremely rare is Ocular non
nephrotic cystionsis.
In Ocular cystinosis there is no systemic
manifestations, only shows corneal deposits and usually
diagnosed in adulthood [5]. It mainly causes photophobia,
decreased visual acuity and mild discomfort. Other than
cornea it can affect other ocular structures such as
conjunctiva, anterior chamber, lens and retina. Conjunctival
involvement can cause irritation, redness and mild discharge
[6]. Involvement of retina is rare but if so can cause
pigmentary retinopathy with visual field deficit. Cysteamine
eye drops hault the progression of retinal degeneration and
can prevent vision loss [5,6].
Regular ophthalmic examination including visual
assesment, slitlamp biomicroscopy, angle evaluation, ocular
investigation such as Colour fundus photograph, anterior
segment OCT, in vivo confocal microscopy (IVCM) can
prevent visual loss and other complications. IVCM is the
Gold standard method of observing corneal cystine
deposition [7]. The treatment for Cystinosis is oral an
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ISSN No:-2456-2165
eyedrop based cysteamine both are approved by FDA. This
medicine is referred as “orphan medicines” as they are used
in rare diseases. Cysteamine drop helps by dissolving
cystine crystals in tissues and give relief from photophobia
and discomfort. Study shows 0.55% cysteamine
hydrochloride drops are well tolerated and reduces corneal
deposits and improve visual acuity in a patient of ocular
cystinosis [8]. If cystine accumulation aggravated involving
limbal stem cell deficiency and peripheral corneal
vascularization in addition with cysteamine therapy, corneal
transplantation such as Penetrating keratoplasty is
performed. But the success of corneal transplantation is
limited due to recurrent cystine deposition in donor cornea
[9].
Overall Ocular cystinosis management requires a
multidisciplinary approach. Further research is needed to
prevent or reduce complication of this disease and for newer
treatment modalities.
IV. CONCLUSION
Visual handicap is the worst complication of cystinosis
that need to be detected early to prevent such complication.
Good monitoring and regular follow-up by both
ophthalmologist and nephrologist is needed .They should be
aware of all the complication related to the disease and work
closely to ensure timely intervention and optimal outcomes.
FINANCIAL INTEREST – Nil
CONFLICTS OF INTEREST- there are no conflicts of
interest.
ACKNOWLEDGEMENT- We would like to thank Dr.
Ahmadur Rahman Research Center of CEITC.
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ISSN No:-2456-2165
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